Oxford Medical Case Reports最新文献

Rhabdomyolysis (RM) is characterised by the breakdown of skeletal muscle tissue, releasing toxic intracellular components into circulation. It presents with dark urine, muscle weakness, myalgia, and elevated creatine phosphokinase levels (CPK). Drug-induced RM is aetiologically significant. This case report describes a 25-year-old male who developed severe RM and Acute Kidney Injury (AKI) after intramuscular (IM) heroin administration as a first time user. IM heroin use can induce higher CPK levels due to direct myocyte toxicity and mechanical trauma. The highly vascularised gluteal muscles with type 1 fibres at the injection site likely exacerbated the severity. Additional factors included lower mitochondrial density in males and alcohol exposure. Despite aggressive fluid resuscitation, renal replacement therapy (RRT) was required, and the patient responded well to haemodialysis. This case highlights AKI as a severe complication of IM heroin use, underscoring the need for further research into drug-induced RM.

Intravascular leiomyoma (IVL) with intracardiac extension (ICE) represents an exceedingly rare diagnosis of a cardiac mass. We present the case of a 42-year-old woman with recurrent syncopal episodes. Cardiac investigations revealed an extensive, mobile mass stretching from the inferior vena cava (IVC) through the right heart to the bifurcation of the pulmonary artery. Emergent surgery was conducted to excise the mass. Post-operative assessment indicated a potential malignancy in the adnexa. A subsequent surgery to resect the uterus with the adnexa, the primary origin of the mass, confirmed the diagnosis of IVL with ICE. The initial diagnostic ambiguity and the urgent pulmonary artery involvement necessitated a two-step surgical approach. Despite the propensity for recurrence, a 5-year follow-up remained unremarkable. This case underscores the importance of considering IVL with ICE in the differential diagnosis, which can expedite both diagnosis and treatment.

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder that affects cholesterol synthesis and causes various physical and mental abnormalities. The case is a 25-day-old male infant who presented with multiple congenital anomalies, such as microcephaly, facial dysmorphism, syndactyly, hypospadias, and other organ malformations. He also had severe vomiting, feeding difficulty, irritability, dehydration, and hyponatremia. Laboratory tests showed low serum cholesterol, in addition to genetic tests, confirming the diagnosis of SLOS. The infant was treated with simvastatin, which improved his irritability and was well tolerated. The paper discusses the clinical features, diagnosis, and management of SLOS, and highlights the importance of early recognition and intervention for this rare case. It is also considered the first documented case in Syria.

Babesiosis, an emerging tick-borne zoonosis caused by parasites of the genus Babesia, is typically transmitted via the black-legged tick. Occasionally, Babesia can also be transmitted through red blood cell transfusion. In this report, we present a case of babesiosis resulting from a red blood cell transfusion in an area where the pathogen is not endemic. The patient presented with a high-grade fever and hemolytic anemia. This case underscores the critical importance of recognizing Babesia as a cause of hemolysis and emphasizes the necessity of implementing universal screening of blood products for Babesia. Enhanced vigilance in blood safety protocols is imperative to prevent transfusion-associated babesiosis.

Behçet's disease (BD) is characterized by skin lesions, uveitis, and recurrent oral and genital ulcers. Vascular problems, predominantly affecting veins, lead to thrombosis, increasing the risk of ruptured artery aneurysms and Budd-Chiari syndrome (BCS). Morbidity and mortality are significantly heightened by rare occurrences such as pulmonary artery aneurysms, cardiac involvement, and BCS. Prompt diagnosis and treatment are pivotal for prognosis improvement, particularly in males with early onset. We present a case of a 16-year-old male with BD history, who developed abdominal distension, pedal edema, and shortness of breath. Clinical examination and laboratory findings revealed thrombosis in the right popliteal vein and BCS. Despite the initiation of lifelong anticoagulation therapy, the patient later suffered a gastrointestinal bleed from perforated duodenal ulcers, necessitating emergency intervention. Given a high Model for End-Stage Liver Disease (MELD) score and associated mortality risk, the patient was promptly referred for liver transplantation.

A 20-year-old male patient with ulcerative proctitis presented with a fever and chest pain. He was diagnosed with rubella-associated myopericarditis due to pericardial rub, elevated troponin I, ST elevation, and positive rubella-immunoglobulin M. The patient subsequently developed cardiac tamponade but responded well to pericardial drainage and antiinflammatory therapy. Notably, he lacked the classic rubella rash and lymphadenopathy. This case highlights the rare but potential complication of rubella-induced myopericarditis with tamponade, and the importance of considering this diagnosis in the absence of typical rubella symptoms.

Cor triatriatum sinister (CTS) is a relatively rare congenital condition characterized by an abnormal septum dividing the left atrium, morphologically presenting as three atria. Although most individuals with heart failure related to CTS undergo surgical treatment in childhood, those with larger fenestrations may remain asymptomatic until they reach an age where surgery is less viable, presenting treatment challenges. In our case study, we report on an elderly woman who declined all invasive treatments and developed heart failure due to severe functional mitral valve regurgitation triggered by atrial fibrillation. She opted for conservative treatment after a comprehensive evaluation of her condition using transesophageal echocardiography, cardiac magnetic resonance imaging, and right-heart catheterization. This multimodal evaluation highlights the importance of accurate diagnostic approaches and tailored treatments for elderly patients with CTS.

A woman in her 30s with a history of multiple bone fractures unexpectedly became pregnant and delivered a full-term baby through cesarean section, despite suffering from excruciating pain without any apparent cause or specific treatment. The patient was referred to our endocrine clinic following childbirth. Blood tests revealed a life-threatening low level of serum phosphate, normal 25-hydroxy vitamin D concentration, low TmP/GFR ratio, and elevated FGF23 levels. A PET/CT scan with Gallium-68 Dotatate identified an abnormal tumor in the right calcaneus. Her FGF23 level returned to normal soon after surgical removal of the tumor, which was confirmed to be chondroblastoma. Her child's cognitive and motor skills typically developed from the newborn to preschool age. He exhibited excellent long-term growth, without any signs of rickets.

In the warmer lowlands, scorpion stings frequently result in emergencies and are a serious public health issue. Early in the spree, scorpion envenomation is particularly deadly because of respiratory and/or cardiovascular collapse. We report a 4-year-old boy with left middle cerebral arterial territory ischemic infarct within 24 h following scorpionism. He was managed conservatively with prazosin, aspirin, enoxaparin, levetriacetam and other supportive measures.